Table 3 Patient cohort characteristics

Number of subjects

n = 30

n = 36

Age (year)

0.58–14.00 (mean 3.44; median 2.80)

1.00–12.5 (mean 3.99; median 2.90; n = 31, the remained 5 cases died)

Male: female

17/13

23/13

Newborn screening

26/30 (87%)

14/36 (39%)

Disease onset

7/30 (23%)

32/36 (89%)

χ2 = 29.09; P < 0.0001

Average age of acute onset (month)

0.10–22 (mean 13.00; median 16.00, n = 3)

0.10–46.00 (mean 6.42; median 3.00; n = 30)

Age of begin treatment (month)

0.70–57 (mean 6.28; median 1.35, n = 30)

0.07–46.00 (mean 5.77; median 2.00; n = 36)

Vitamin B12 effectiveness

29/29 (100% effective; 1 case has not used Vitamin B12)

12/32 (38% effective; 1 case was lost of followed up and could not be evaluated; 3 cases died before Vitamin B12 use)

χ2 = 26.97; P < 0.0001

Current Health Condition

Healthy: 24 cases; developmental delay (< 2y) or intellectual impairment (> 2y): 4 cases; loss of follow up: 2 cases

Developmental delay (< 2y) or intellectual impairment (> 2y): 24 cases; died: 6 cases; healthy:5 cases; loss of follow up: 1 cases

χ2 = 32.79; P < 0.0001

C3 level on presentation (μmol/L)

Median 5.82 (2.40–9.72; n = 30)

Median 13.19 (2.16–43.71; n = 35)

U = 121.50; P < 0.0001

C3/C2 level on presentation

Median 0.39 (0.18–0.92; n = 30)

Median 0.66 (0.22–8.81; n = 35)

U = 257.50; P = 0.0004

Methylmalonic acid level on presentation (mmol/mol creatinine)

Median 41.11 (2.31–566.20; n = 28)

Median 310.20 (9.83–11,057.00; n = 32)

U = 132.00; P < 0.0001

Methylcitric acid level on presentation (mmol/mol creatinine)

Median 1.37 (0.00–9.68;n = 22)

Median 11.26 (0–84.00;n = 28)

U = 73.50; P < 0.0001

C3 level after treatment (μmol/L)

Median 3.23 (1.31–8.52; n = 30)

Median 26.65 (6.08–63.32; n = 32)

U = 8.00; P < 0.0001

C3/C2 level after treatment

0.18 ± 0.02 (0.06–0.35; n = 30)

0.86 ± 0.06 (0.21–1.42; n = 32)

T = 11.56; P < 0.0001

Methylmalonic acid level after treatment (mmol/mol creatinine)

Median 4.28 (0.00–85.17; n = 27)

Median 382.40 (0.00–1937.00; n = 31)

U = 77.00; P < 0.0001

Methylcitric acid level after treatment (mmol/mol creatinine)

Median 0.53 (0.00–4.20; n = 25)

Median 5.46 (0.00–60.23; n = 28)

U = 65.50; P < 0.0001